APBA1

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adapter protein that interacts with the Alzheimer's disease amyloid precursor protein (APP). It stabilizes APP and inhibits production of proteolytic APP fragments including the A beta peptide that is deposited in the brains of Alzheimer's disease patients. This gene product is believed to be involved in signal transduction processes. It is also regarded as a putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle maturation (GO:0016188)6.40946399
2regulation of short-term neuronal synaptic plasticity (GO:0048172)6.19312736
3positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.82836184
4locomotory exploration behavior (GO:0035641)5.78370530
5synaptic vesicle exocytosis (GO:0016079)5.38852191
6vocalization behavior (GO:0071625)5.29780661
7positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.19334484
8regulation of synaptic vesicle exocytosis (GO:2000300)5.12720289
9* glutamate secretion (GO:0014047)4.96846285
10layer formation in cerebral cortex (GO:0021819)4.90182518
11regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.90048658
12neuron cell-cell adhesion (GO:0007158)4.74889461
13protein localization to synapse (GO:0035418)4.67618484
14exploration behavior (GO:0035640)4.63805095
15synaptic vesicle docking involved in exocytosis (GO:0016081)4.58771702
16regulation of glutamate receptor signaling pathway (GO:1900449)4.53723347
17proline transport (GO:0015824)4.51130867
18regulation of synaptic vesicle transport (GO:1902803)4.50736960
19neurotransmitter secretion (GO:0007269)4.47323635
20ionotropic glutamate receptor signaling pathway (GO:0035235)4.24497472
21regulation of synapse structural plasticity (GO:0051823)4.16270751
22neuronal action potential propagation (GO:0019227)4.14657015
23regulation of neuronal synaptic plasticity (GO:0048168)4.13780351
24regulation of long-term neuronal synaptic plasticity (GO:0048169)4.10996025
25dendritic spine morphogenesis (GO:0060997)4.07072705
26cellular potassium ion homeostasis (GO:0030007)3.96708038
27cerebellar granule cell differentiation (GO:0021707)3.88777098
28pyrimidine nucleobase catabolic process (GO:0006208)3.85223228
29sodium ion export (GO:0071436)3.84209125
30synaptic transmission, glutamatergic (GO:0035249)3.80757725
31presynaptic membrane organization (GO:0097090)3.76088350
32L-amino acid import (GO:0043092)3.73256645
33glutamate receptor signaling pathway (GO:0007215)3.72945335
34activation of protein kinase A activity (GO:0034199)3.72449064
35dendrite morphogenesis (GO:0048813)3.71778864
36presynaptic membrane assembly (GO:0097105)3.70807801
37regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.65943771
38neurotransmitter transport (GO:0006836)3.65741717
39neurotransmitter-gated ion channel clustering (GO:0072578)3.62613759
40positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.61000276
41neuron recognition (GO:0008038)3.59989009
42neuron-neuron synaptic transmission (GO:0007270)3.57474462
43glycine transport (GO:0015816)3.54561033
44long-term memory (GO:0007616)3.53175629
45positive regulation of dendritic spine development (GO:0060999)3.48193661
46neuromuscular process controlling balance (GO:0050885)3.45630045
47membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.44739319
48positive regulation of membrane potential (GO:0045838)3.44523828
49cell migration in hindbrain (GO:0021535)3.42796969
50axon ensheathment in central nervous system (GO:0032291)3.42775684
51central nervous system myelination (GO:0022010)3.42775684
52regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.40731472
53amino acid import (GO:0043090)3.40167878
54regulation of neurotransmitter secretion (GO:0046928)3.39771028
55synaptic vesicle endocytosis (GO:0048488)3.39390662
56cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.38706708
57cerebellar Purkinje cell differentiation (GO:0021702)3.38315328
58postsynaptic membrane organization (GO:0001941)3.37516368
59nucleobase catabolic process (GO:0046113)3.36254701
60regulation of excitatory postsynaptic membrane potential (GO:0060079)3.35385981
61regulation of neurotransmitter levels (GO:0001505)3.35327131
62positive regulation of synapse maturation (GO:0090129)3.35191297
63regulation of voltage-gated calcium channel activity (GO:1901385)3.35092929
64positive regulation of synaptic transmission, GABAergic (GO:0032230)3.33203796
65auditory behavior (GO:0031223)3.32902760
66transmission of nerve impulse (GO:0019226)3.32747708
67axonal fasciculation (GO:0007413)3.30859075
68vesicle transport along microtubule (GO:0047496)3.28968703
69membrane depolarization during action potential (GO:0086010)3.28593130
70potassium ion homeostasis (GO:0055075)3.28537073
71regulation of synapse maturation (GO:0090128)3.27352013
72response to auditory stimulus (GO:0010996)3.26797652
73cell communication by electrical coupling (GO:0010644)3.23812697
74regulation of postsynaptic membrane potential (GO:0060078)3.23780481
75organelle transport along microtubule (GO:0072384)3.21407128
76regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.19588807
77regulation of synaptic plasticity (GO:0048167)3.19556105
78regulation of vesicle fusion (GO:0031338)3.16948961
79regulation of dendritic spine morphogenesis (GO:0061001)3.16852097
80regulation of ARF protein signal transduction (GO:0032012)3.16098489
81* gamma-aminobutyric acid transport (GO:0015812)3.15775735
82negative regulation of microtubule polymerization (GO:0031115)3.15170727
83positive regulation of neurotransmitter transport (GO:0051590)3.13925102
84innervation (GO:0060384)3.12689037
85regulation of dendritic spine development (GO:0060998)3.10519945
86regulation of neurotransmitter transport (GO:0051588)3.10233197
87detection of calcium ion (GO:0005513)3.09674262
88potassium ion import (GO:0010107)3.08706862
89synapse assembly (GO:0007416)3.08706513
90positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.08148469
91mating behavior (GO:0007617)3.07867681
92positive regulation of dendritic spine morphogenesis (GO:0061003)3.07289098
93neuromuscular process controlling posture (GO:0050884)3.07224799
94regulation of synaptic transmission, glutamatergic (GO:0051966)3.05197926
95cellular sodium ion homeostasis (GO:0006883)3.03408816
96prepulse inhibition (GO:0060134)3.02686243
97regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.02101903
98neuromuscular synaptic transmission (GO:0007274)3.02042763
99positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.00118704
100positive regulation of neurotransmitter secretion (GO:0001956)2.99969032
101* axon cargo transport (GO:0008088)2.99779815
102membrane depolarization (GO:0051899)2.99358391
103startle response (GO:0001964)2.97826369
104negative regulation of dendrite morphogenesis (GO:0050774)2.97815571
105positive regulation of potassium ion transmembrane transport (GO:1901381)2.96541133
106neuronal ion channel clustering (GO:0045161)2.94927150
107intraspecies interaction between organisms (GO:0051703)2.94381236
108social behavior (GO:0035176)2.94381236
109negative regulation of synaptic transmission, GABAergic (GO:0032229)2.93942297
110gamma-aminobutyric acid signaling pathway (GO:0007214)2.93503564
111* synaptic transmission (GO:0007268)2.93034364
112clathrin coat assembly (GO:0048268)2.91530134
113membrane hyperpolarization (GO:0060081)2.90677703
114dendritic spine organization (GO:0097061)2.90309998
115positive regulation of synapse assembly (GO:0051965)2.88523265
116neuromuscular process (GO:0050905)2.87963602
117central nervous system projection neuron axonogenesis (GO:0021952)2.87929191
118regulation of calcium ion-dependent exocytosis (GO:0017158)2.87208925
119negative regulation of amyloid precursor protein catabolic process (GO:1902992)2.85551643
120mitochondrion transport along microtubule (GO:0047497)2.85322370
121establishment of mitochondrion localization, microtubule-mediated (GO:0034643)2.85322370
122establishment of mitochondrion localization (GO:0051654)2.84915133
123adult walking behavior (GO:0007628)2.83769921
124calcium ion-dependent exocytosis (GO:0017156)2.83009424
125long-term synaptic potentiation (GO:0060291)2.82630397
126learning (GO:0007612)2.82604156

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.88790543
2GBX2_23144817_ChIP-Seq_PC3_Human3.08336927
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.00799318
4* JARID2_20064375_ChIP-Seq_MESCs_Mouse2.87815079
5* SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.86205445
6REST_21632747_ChIP-Seq_MESCs_Mouse2.75206541
7EZH2_18974828_ChIP-Seq_MESCs_Mouse2.62126985
8RNF2_18974828_ChIP-Seq_MESCs_Mouse2.62126985
9DROSHA_22980978_ChIP-Seq_HELA_Human2.59951568
10* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.52207579
11* JARID2_20075857_ChIP-Seq_MESCs_Mouse2.49720521
12* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.48702698
13SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.43507856
14SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.39237543
15SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.37280528
16RARB_27405468_Chip-Seq_BRAIN_Mouse2.36337954
17* EZH2_27304074_Chip-Seq_ESCs_Mouse2.33643507
18EZH2_27294783_Chip-Seq_ESCs_Mouse2.25311419
19SUZ12_27294783_Chip-Seq_ESCs_Mouse2.24010038
20REST_18959480_ChIP-ChIP_MESCs_Mouse2.23527895
21NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.11896848
22* RNF2_27304074_Chip-Seq_ESCs_Mouse2.11833959
23EED_16625203_ChIP-ChIP_MESCs_Mouse2.07197246
24ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.05412446
25CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.00722364
26EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.00625259
27IKZF1_21737484_ChIP-ChIP_HCT116_Human1.99769791
28MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.95728196
29GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.92382498
30AR_21572438_ChIP-Seq_LNCaP_Human1.89188060
31CTBP2_25329375_ChIP-Seq_LNCAP_Human1.61325515
32SMAD4_21799915_ChIP-Seq_A2780_Human1.55704371
33ERG_21242973_ChIP-ChIP_JURKAT_Human1.54408908
34* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.49009965
35ZNF274_21170338_ChIP-Seq_K562_Hela1.47587548
36TAF15_26573619_Chip-Seq_HEK293_Human1.42611319
37CTBP1_25329375_ChIP-Seq_LNCAP_Human1.42306798
38NR3C1_23031785_ChIP-Seq_PC12_Mouse1.38718530
39* PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.35583214
40THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.35006749
41RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.34198544
42SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.30353114
43* SOX2_21211035_ChIP-Seq_LN229_Gbm1.29835757
44* RING1B_27294783_Chip-Seq_ESCs_Mouse1.29809177
45KDM2B_26808549_Chip-Seq_K562_Human1.24330838
46CDX2_19796622_ChIP-Seq_MESCs_Mouse1.22021309
47SMAD_19615063_ChIP-ChIP_OVARY_Human1.20952692
48STAT3_23295773_ChIP-Seq_U87_Human1.20283988
49* AR_19668381_ChIP-Seq_PC3_Human1.20144645
50* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.19926708
51* DNAJC2_21179169_ChIP-ChIP_NT2_Human1.17523988
52AR_25329375_ChIP-Seq_VCAP_Human1.17411482
53RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.15604565
54ZFP57_27257070_Chip-Seq_ESCs_Mouse1.15133607
55SMAD3_21741376_ChIP-Seq_EPCs_Human1.14192339
56PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.13904305
57P300_19829295_ChIP-Seq_ESCs_Human1.13876695
58ZFP281_18757296_ChIP-ChIP_E14_Mouse1.12705219
59IGF1R_20145208_ChIP-Seq_DFB_Human1.12691559
60TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.12489310
61OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.11556055
62EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.11067529
63RING1B_27294783_Chip-Seq_NPCs_Mouse1.10468908
64TOP2B_26459242_ChIP-Seq_MCF-7_Human1.09613014
65ZNF217_24962896_ChIP-Seq_MCF-7_Human1.09543674
66* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.09417156
67WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.07444846
68TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.05461971
69AHR_22903824_ChIP-Seq_MCF-7_Human1.04936367
70ARNT_22903824_ChIP-Seq_MCF-7_Human1.04113940
71TCF4_23295773_ChIP-Seq_U87_Human1.03441983
72CBX2_27304074_Chip-Seq_ESCs_Mouse1.03172959
73TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.02455754
74P53_22127205_ChIP-Seq_FIBROBLAST_Human1.02371842
75* YAP1_20516196_ChIP-Seq_MESCs_Mouse1.01550159
76* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.01220160
77PIAS1_25552417_ChIP-Seq_VCAP_Human0.99777662
78MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.99733631
79* SMAD3_21741376_ChIP-Seq_ESCs_Human0.98832939
80SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.98786211
81GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.97691580
82SMAD4_21741376_ChIP-Seq_HESCs_Human0.97012418
83CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.96266125
84RNF2_27304074_Chip-Seq_NSC_Mouse0.95879218
85ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.95438841
86BMI1_23680149_ChIP-Seq_NPCS_Mouse0.94890613
87TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.94763310
88MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.94009798
89TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.93884238
90LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.93485798
91VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.92644043
92TET1_21490601_ChIP-Seq_MESCs_Mouse0.92382909
93PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.91858206
94CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.91758591
95PRDM14_20953172_ChIP-Seq_ESCs_Human0.89660497
96RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.89378077
97RUNX2_22187159_ChIP-Seq_PCA_Human0.88658832
98GATA1_26923725_Chip-Seq_HPCs_Mouse0.88592796
99NR3C1_21868756_ChIP-Seq_MCF10A_Human0.88019215
100CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.87547374
101CTCF_27219007_Chip-Seq_Bcells_Human0.87214608
102POU3F2_20337985_ChIP-ChIP_501MEL_Human0.87060369
103TP53_20018659_ChIP-ChIP_R1E_Mouse0.86622932
104EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.86434199
105SMAD3_21741376_ChIP-Seq_HESCs_Human0.86367178
106KDM2B_26808549_Chip-Seq_REH_Human0.86084666
107GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.84580115
108TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.84569123
109* ZFP281_27345836_Chip-Seq_ESCs_Mouse0.83768679
110POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.83721094
111TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.83721094
112TP53_16413492_ChIP-PET_HCT116_Human0.83596408
113NANOG_18555785_Chip-Seq_ESCs_Mouse0.82922128
114* CTNNB1_20460455_ChIP-Seq_HCT116_Human0.81392698
115OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.81256945
116* TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.80983127
117ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.79297851

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.38641718
2MP0003880_abnormal_central_pattern4.34384993
3MP0004270_analgesia4.14414468
4* MP0003635_abnormal_synaptic_transmissio4.01954523
5MP0001968_abnormal_touch/_nociception3.46448819
6MP0005423_abnormal_somatic_nervous3.23106630
7MP0002063_abnormal_learning/memory/cond3.16488022
8* MP0009745_abnormal_behavioral_response3.08651725
9MP0002734_abnormal_mechanical_nocicepti3.07922276
10MP0009046_muscle_twitch3.07756512
11MP0002064_seizures2.99039018
12MP0002735_abnormal_chemical_nociception2.81075791
13MP0002736_abnormal_nociception_after2.65891147
14MP0002572_abnormal_emotion/affect_behav2.62192477
15MP0002733_abnormal_thermal_nociception2.54341220
16MP0002272_abnormal_nervous_system2.49904101
17MP0001486_abnormal_startle_reflex2.44260029
18MP0004858_abnormal_nervous_system2.32437093
19MP0001970_abnormal_pain_threshold2.28954839
20MP0003329_amyloid_beta_deposits2.18094849
21MP0009780_abnormal_chondrocyte_physiolo2.11718675
22MP0001440_abnormal_grooming_behavior2.10356288
23MP0000778_abnormal_nervous_system2.02651287
24MP0001501_abnormal_sleep_pattern2.01176911
25MP0002822_catalepsy2.01167703
26MP0002067_abnormal_sensory_capabilities1.99977421
27MP0002184_abnormal_innervation1.98697286
28MP0004811_abnormal_neuron_physiology1.94428592
29MP0006276_abnormal_autonomic_nervous1.92304324
30MP0008569_lethality_at_weaning1.91816531
31MP0002909_abnormal_adrenal_gland1.85979596
32MP0000955_abnormal_spinal_cord1.75986281
33MP0002557_abnormal_social/conspecific_i1.73252897
34* MP0004924_abnormal_behavior1.59529432
35* MP0005386_behavior/neurological_phenoty1.59529432
36MP0003879_abnormal_hair_cell1.58883595
37MP0004885_abnormal_endolymph1.56101398
38MP0000569_abnormal_digit_pigmentation1.56008639
39MP0002882_abnormal_neuron_morphology1.50272513
40* MP0002066_abnormal_motor_capabilities/c1.43427164
41MP0003633_abnormal_nervous_system1.41678385
42MP0001984_abnormal_olfaction1.38803381
43MP0005645_abnormal_hypothalamus_physiol1.32297119
44MP0005646_abnormal_pituitary_gland1.29447309
45MP0003631_nervous_system_phenotype1.21902273
46MP0003787_abnormal_imprinting1.20791514
47MP0004142_abnormal_muscle_tone1.16446852
48MP0001502_abnormal_circadian_rhythm1.14659656
49MP0002152_abnormal_brain_morphology1.13224310
50MP0002229_neurodegeneration1.08494258
51MP0003634_abnormal_glial_cell1.08035857
52MP0000604_amyloidosis1.05975932
53MP0000920_abnormal_myelination1.03714244
54* MP0001905_abnormal_dopamine_level1.01734324
55MP0003123_paternal_imprinting1.01277987
56MP0003122_maternal_imprinting0.97384233
57MP0003690_abnormal_glial_cell0.95819597
58MP0001348_abnormal_lacrimal_gland0.95814419
59MP0004742_abnormal_vestibular_system0.95721176
60MP0003283_abnormal_digestive_organ0.95503103
61MP0010386_abnormal_urinary_bladder0.95035097
62MP0003632_abnormal_nervous_system0.94648994
63MP0000751_myopathy0.94099396
64MP0004145_abnormal_muscle_electrophysio0.92970921
65MP0008961_abnormal_basal_metabolism0.91041301
66MP0008872_abnormal_physiological_respon0.90375358
67MP0003172_abnormal_lysosome_physiology0.90078766
68MP0001529_abnormal_vocalization0.87348681
69MP0003121_genomic_imprinting0.87012021
70MP0002069_abnormal_eating/drinking_beha0.86840287
71MP0000013_abnormal_adipose_tissue0.82395484
72MP0008874_decreased_physiological_sensi0.82311534
73MP0001177_atelectasis0.80707874
74MP0005535_abnormal_body_temperature0.80581899
75MP0005551_abnormal_eye_electrophysiolog0.79984944
76MP0008877_abnormal_DNA_methylation0.79826375
77MP0001963_abnormal_hearing_physiology0.79218270
78MP0002752_abnormal_somatic_nervous0.79116050
79MP0001299_abnormal_eye_distance/0.78826859
80MP0002876_abnormal_thyroid_physiology0.73682294
81MP0004085_abnormal_heartbeat0.73479172
82MP0005623_abnormal_meninges_morphology0.72364484
83MP0001188_hyperpigmentation0.70958849
84MP0002638_abnormal_pupillary_reflex0.70439980
85MP0005394_taste/olfaction_phenotype0.69915420
86MP0005499_abnormal_olfactory_system0.69915420
87MP0003075_altered_response_to0.69473090
88MP0004510_myositis0.69204684
89MP0000631_abnormal_neuroendocrine_gland0.69008716
90MP0005410_abnormal_fertilization0.68096716
91MP0000026_abnormal_inner_ear0.67946242
92MP0002090_abnormal_vision0.67204224
93MP0005167_abnormal_blood-brain_barrier0.64622951
94MP0005187_abnormal_penis_morphology0.63097734
95MP0003137_abnormal_impulse_conducting0.61045932
96MP0003861_abnormal_nervous_system0.61022196
97MP0002082_postnatal_lethality0.59412064
98MP0010770_preweaning_lethality0.59412064
99MP0001485_abnormal_pinna_reflex0.58755004
100MP0004130_abnormal_muscle_cell0.57495210
101MP0001664_abnormal_digestion0.56940355
102MP0004233_abnormal_muscle_weight0.55997026
103MP0002837_dystrophic_cardiac_calcinosis0.55215625
104MP0010768_mortality/aging0.55123137
105MP0001986_abnormal_taste_sensitivity0.55098355
106MP0001943_abnormal_respiration0.53247706
107MP0004215_abnormal_myocardial_fiber0.52858436
108MP0010769_abnormal_survival0.52811359
109MP0004484_altered_response_of0.50866249
110MP0003938_abnormal_ear_development0.50274963
111MP0004133_heterotaxia0.46762578
112* MP0003956_abnormal_body_size0.44931015
113MP0004043_abnormal_pH_regulation0.43408757
114MP0005409_darkened_coat_color0.41307305

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)6.53054890
2Focal motor seizures (HP:0011153)5.94925800
3Visual hallucinations (HP:0002367)5.25368983
4Focal seizures (HP:0007359)5.17082039
5Supranuclear gaze palsy (HP:0000605)4.55087819
6Progressive cerebellar ataxia (HP:0002073)4.40211625
7Action tremor (HP:0002345)4.32982975
8Epileptic encephalopathy (HP:0200134)4.14966726
9Ankle clonus (HP:0011448)4.09013729
10Mutism (HP:0002300)4.00385811
11Papilledema (HP:0001085)3.78063400
12Atonic seizures (HP:0010819)3.76348937
13Febrile seizures (HP:0002373)3.58203620
14Absence seizures (HP:0002121)3.49602595
15Limb dystonia (HP:0002451)3.48886184
16Generalized tonic-clonic seizures (HP:0002069)3.45167106
17Neurofibrillary tangles (HP:0002185)3.31565619
18Urinary bladder sphincter dysfunction (HP:0002839)3.28589675
19Poor eye contact (HP:0000817)3.21104963
20Dialeptic seizures (HP:0011146)3.16974831
21Depression (HP:0000716)3.14238563
22Broad-based gait (HP:0002136)3.13751172
23Termporal pattern (HP:0011008)3.10793744
24Insidious onset (HP:0003587)3.10793744
25Cerebral inclusion bodies (HP:0100314)3.10191618
26Abnormality of the corticospinal tract (HP:0002492)3.08010467
27Postural instability (HP:0002172)3.00950298
28Gaze-evoked nystagmus (HP:0000640)3.00545663
29Impaired vibration sensation in the lower limbs (HP:0002166)2.97705090
30Pheochromocytoma (HP:0002666)2.93856280
31Urinary urgency (HP:0000012)2.93504725
32Truncal ataxia (HP:0002078)2.91244534
33Abnormal eating behavior (HP:0100738)2.91008617
34Impaired social interactions (HP:0000735)2.89149230
35Abnormal social behavior (HP:0012433)2.89149230
36Spastic gait (HP:0002064)2.86970520
37Dysmetria (HP:0001310)2.86526455
38Genetic anticipation (HP:0003743)2.85966850
39Amyotrophic lateral sclerosis (HP:0007354)2.80747006
40Dysdiadochokinesis (HP:0002075)2.79637640
41Abnormality of the lower motor neuron (HP:0002366)2.77280510
42Torticollis (HP:0000473)2.76024017
43Progressive inability to walk (HP:0002505)2.74904872
44Anxiety (HP:0000739)2.72281913
45Abnormality of binocular vision (HP:0011514)2.67973666
46Diplopia (HP:0000651)2.67973666
47Sleep apnea (HP:0010535)2.61798222
48Drooling (HP:0002307)2.60066220
49Excessive salivation (HP:0003781)2.60066220
50Cerebral hypomyelination (HP:0006808)2.59035190
51Amblyopia (HP:0000646)2.58368400
52Intention tremor (HP:0002080)2.56798359
53Hemiparesis (HP:0001269)2.53666185
54Megalencephaly (HP:0001355)2.51553410
55Agitation (HP:0000713)2.49024733
56Neuroendocrine neoplasm (HP:0100634)2.48635782
57Lower limb muscle weakness (HP:0007340)2.47896347
58Impaired smooth pursuit (HP:0007772)2.44768178
59Focal dystonia (HP:0004373)2.44084292
60Akinesia (HP:0002304)2.43312397
61Bradykinesia (HP:0002067)2.42660005
62Insomnia (HP:0100785)2.36763316
63Polyphagia (HP:0002591)2.34401929
64Hemiplegia (HP:0002301)2.34272276
65Hyperventilation (HP:0002883)2.33977918
66Annular pancreas (HP:0001734)2.33575563
67Delusions (HP:0000746)2.31082473
68Ventricular fibrillation (HP:0001663)2.30279674
69EEG with generalized epileptiform discharges (HP:0011198)2.28773526
70Epileptiform EEG discharges (HP:0011182)2.27480216
71Abnormality of ocular smooth pursuit (HP:0000617)2.27284773
72Scanning speech (HP:0002168)2.27255142
73Craniofacial dystonia (HP:0012179)2.24721740
74Hypsarrhythmia (HP:0002521)2.23262838
75Clonus (HP:0002169)2.22479827
76Fetal akinesia sequence (HP:0001989)2.21859753
77Inappropriate behavior (HP:0000719)2.20761046
78Diminished motivation (HP:0000745)2.19728994
79Stereotypic behavior (HP:0000733)2.19197725
80Morphological abnormality of the pyramidal tract (HP:0002062)2.18008495
81Tetraplegia (HP:0002445)2.16852679
82Neuronal loss in central nervous system (HP:0002529)2.15705557
83Obstructive sleep apnea (HP:0002870)2.11798614
84Apathy (HP:0000741)2.10097032
85Inability to walk (HP:0002540)2.09235679
86Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.08642893
87Degeneration of the lateral corticospinal tracts (HP:0002314)2.08642893
88Spastic tetraparesis (HP:0001285)2.04141147
89Absent speech (HP:0001344)2.03272236
90Elevated circulating parathyroid hormone (PTH) level (HP:0003165)1.99685342
91Aqueductal stenosis (HP:0002410)1.99267505
92Impaired vibratory sensation (HP:0002495)1.97394964
93Spastic tetraplegia (HP:0002510)1.96906411
94Hypoplasia of the brainstem (HP:0002365)1.96594171
95Aplasia/Hypoplasia of the brainstem (HP:0007362)1.96594171
96Incomplete penetrance (HP:0003829)1.96080294
97Rapidly progressive (HP:0003678)1.95408843
98Neoplasm of the peripheral nervous system (HP:0100007)1.95014759
99Gait ataxia (HP:0002066)1.91705580
100Rigidity (HP:0002063)1.91490327
101Generalized myoclonic seizures (HP:0002123)1.91140538
102Pointed chin (HP:0000307)1.90877256
103Postural tremor (HP:0002174)1.89468002
104Prolonged QT interval (HP:0001657)1.88398720
105Hypoventilation (HP:0002791)1.86947905
106Peripheral hypomyelination (HP:0007182)1.86889080
107Failure to thrive in infancy (HP:0001531)1.85982762
108Status epilepticus (HP:0002133)1.85420839
109Hypercortisolism (HP:0001578)1.84679368
110Bundle branch block (HP:0011710)1.84027142
111Ulnar claw (HP:0001178)1.83194540
112Dysmetric saccades (HP:0000641)1.82813171
113Gait imbalance (HP:0002141)1.79466099
114Hypoplasia of the corpus callosum (HP:0002079)1.78287052
115Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.76670932
116CNS hypomyelination (HP:0003429)1.73743918
117Lower limb amyotrophy (HP:0007210)1.67681745
118Split foot (HP:0001839)1.65856551
119Abnormal EKG (HP:0003115)1.64187970

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MARK14.80000848
2MAP3K94.22473671
3NTRK33.82988639
4MINK12.96931777
5MAP3K42.88078944
6EPHA42.72773693
7NTRK12.52296814
8PAK62.52001651
9MAP2K72.33617333
10NTRK22.30650470
11DAPK22.30207382
12KSR22.13509225
13PRKD32.11634540
14CAMKK11.87656853
15MAP2K41.81088165
16PHKG21.74752764
17PHKG11.74752764
18LATS21.72593176
19MAP3K121.62479926
20CDK51.57752568
21GRK51.55249100
22MAPK131.46805195
23MAP3K21.42380495
24RIPK41.34731201
25STK381.33538842
26KSR11.28538565
27PNCK1.28407810
28SIK21.25539134
29UHMK11.23678123
30PLK21.22870931
31RET1.22531060
32LMTK21.15765868
33PRKCG1.11440496
34CASK1.10600351
35TNIK1.08782608
36TYRO31.08653955
37DAPK11.08585326
38TAOK11.03964807
39CSNK1G21.03871272
40CAMKK21.02297317
41STK110.95859826
42CDK140.95596001
43CDK150.94916680
44CDK180.94203778
45ALK0.93728712
46CDK190.91615522
47PAK30.90178996
48FES0.89489825
49PRKCH0.87197627
50PRPF4B0.86006427
51CAMK2A0.84618634
52MARK20.83458924
53SCYL20.82330648
54CDK11A0.82157576
55SGK2230.80138247
56SGK4940.80138247
57ARAF0.79613734
58CAMK10.77931162
59MAPK120.76928331
60LIMK10.71375951
61WNK10.71015290
62FRK0.67994527
63CAMK40.67097689
64RIPK10.66710052
65DYRK1A0.66489848
66FGFR20.65555119
67PINK10.64885285
68PKN10.63887065
69PDK10.62013160
70CAMK1G0.61934829
71PRKCZ0.61701878
72DYRK20.61326683
73MAP3K10.60064833
74CAMK2B0.59936984
75RPS6KA20.57344162
76PDPK10.55759773
77SGK10.55061338
78SGK30.54680896
79CDC42BPA0.53947639
80WNK30.52782328
81FYN0.52303157
82NEK60.52221811
83STK390.51721337
84SGK20.51709289
85OXSR10.51186003
86BCR0.50919649
87MAP3K130.49637246
88PTK2B0.49206973
89CSNK1G30.48863057
90ROCK20.48362855
91PRKCE0.48261076
92RPS6KA30.45963236
93MAPKAPK50.44187351
94RAF10.43845239
95ICK0.43793194
96ADRBK20.43749666
97ERBB30.43705877
98PRKG10.43331883
99MAPK100.42204445
100CSNK1A1L0.42068539
101CSNK1D0.40492939
102ROCK10.39416485
103PDK40.38847793
104PDK30.38847793
105CAMK2D0.38822250
106CAMK2G0.38444789
107WNK40.38223947
108NEK10.37949093
109PRKACA0.37237921
110DAPK30.35963740
111FER0.35468351
112MAP2K10.35389259
113MAP3K60.35262932
114BRSK10.34589219
115MAP2K60.34410883
116EPHA30.34404428
117PRKAA10.33833179
118MAPK80.33344913
119PRKCA0.33250272
120CAMK1D0.32054720
121CCNB10.32043221
122ERBB20.30612577
123PRKCB0.30207311
124MAPK40.29996786
125CSNK1A10.29321253
126BMPR1B0.28874972

Predicted pathways (KEGG)

RankGene SetZ-score
1Synaptic vesicle cycle_Homo sapiens_hsa047213.34591522
2Nicotine addiction_Homo sapiens_hsa050333.18190180
3GABAergic synapse_Homo sapiens_hsa047272.54048235
4Circadian entrainment_Homo sapiens_hsa047132.53163043
5Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.52546194
6Olfactory transduction_Homo sapiens_hsa047402.51602461
7Glutamatergic synapse_Homo sapiens_hsa047242.43479915
8Long-term potentiation_Homo sapiens_hsa047202.41217333
9Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.39578185
10Morphine addiction_Homo sapiens_hsa050322.26689137
11Amphetamine addiction_Homo sapiens_hsa050312.19922398
12Dopaminergic synapse_Homo sapiens_hsa047282.12996336
13Salivary secretion_Homo sapiens_hsa049702.06464422
14Insulin secretion_Homo sapiens_hsa049111.99752632
15Cholinergic synapse_Homo sapiens_hsa047251.93560708
16Gastric acid secretion_Homo sapiens_hsa049711.83429437
17Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.79903983
18Aldosterone synthesis and secretion_Homo sapiens_hsa049251.72079383
19Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.68510730
20Cocaine addiction_Homo sapiens_hsa050301.65522700
21Taste transduction_Homo sapiens_hsa047421.63397973
22Long-term depression_Homo sapiens_hsa047301.62050660
23Serotonergic synapse_Homo sapiens_hsa047261.58379987
24Renin secretion_Homo sapiens_hsa049241.56277726
25Oxytocin signaling pathway_Homo sapiens_hsa049211.51225270
26Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.50379379
27GnRH signaling pathway_Homo sapiens_hsa049121.42180568
28Gap junction_Homo sapiens_hsa045401.37966941
29Type II diabetes mellitus_Homo sapiens_hsa049301.37368102
30Calcium signaling pathway_Homo sapiens_hsa040201.34469347
31Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.33746775
32Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.31134991
33Estrogen signaling pathway_Homo sapiens_hsa049151.30827809
34Axon guidance_Homo sapiens_hsa043601.28902643
35Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.22539870
36Glioma_Homo sapiens_hsa052141.18810647
37cAMP signaling pathway_Homo sapiens_hsa040241.18372184
38Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.14217646
39Collecting duct acid secretion_Homo sapiens_hsa049661.13690091
40Phosphatidylinositol signaling system_Homo sapiens_hsa040701.13577028
41Dorso-ventral axis formation_Homo sapiens_hsa043201.13204124
42ErbB signaling pathway_Homo sapiens_hsa040121.09018143
43Vitamin B6 metabolism_Homo sapiens_hsa007501.02457507
44Melanogenesis_Homo sapiens_hsa049161.00142868
45cGMP-PKG signaling pathway_Homo sapiens_hsa040220.97991904
46Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.97483179
47Phospholipase D signaling pathway_Homo sapiens_hsa040720.93897530
48Nitrogen metabolism_Homo sapiens_hsa009100.91163457
49Oocyte meiosis_Homo sapiens_hsa041140.88942127
50Carbohydrate digestion and absorption_Homo sapiens_hsa049730.88280472
51Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.86338215
52Pancreatic secretion_Homo sapiens_hsa049720.85938386
53Vascular smooth muscle contraction_Homo sapiens_hsa042700.85812951
54Cardiac muscle contraction_Homo sapiens_hsa042600.84628219
55Neurotrophin signaling pathway_Homo sapiens_hsa047220.82525867
56Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.81536775
57Butanoate metabolism_Homo sapiens_hsa006500.80860290
58Thyroid hormone synthesis_Homo sapiens_hsa049180.80295333
59Vibrio cholerae infection_Homo sapiens_hsa051100.79107352
60Choline metabolism in cancer_Homo sapiens_hsa052310.75851975
61Phototransduction_Homo sapiens_hsa047440.74808191
62MAPK signaling pathway_Homo sapiens_hsa040100.72606118
63VEGF signaling pathway_Homo sapiens_hsa043700.71060552
64Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.69785526
65Endocytosis_Homo sapiens_hsa041440.68474104
66Endometrial cancer_Homo sapiens_hsa052130.68113635
67Sphingolipid signaling pathway_Homo sapiens_hsa040710.67563437
68Dilated cardiomyopathy_Homo sapiens_hsa054140.67413324
69Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.66334251
70Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.65497030
71mTOR signaling pathway_Homo sapiens_hsa041500.63527504
72Ras signaling pathway_Homo sapiens_hsa040140.62661371
73Histidine metabolism_Homo sapiens_hsa003400.62072926
74Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.61488426
75Thyroid hormone signaling pathway_Homo sapiens_hsa049190.60137583
76Circadian rhythm_Homo sapiens_hsa047100.59283529
77Renal cell carcinoma_Homo sapiens_hsa052110.58590347
78Bile secretion_Homo sapiens_hsa049760.57473042
79Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.57111313
80Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.56063634
81Insulin signaling pathway_Homo sapiens_hsa049100.55201226
82Glucagon signaling pathway_Homo sapiens_hsa049220.55064000
83Rap1 signaling pathway_Homo sapiens_hsa040150.55027140
84Arginine biosynthesis_Homo sapiens_hsa002200.54151227
85Prion diseases_Homo sapiens_hsa050200.53123698
86Alcoholism_Homo sapiens_hsa050340.52941854
87Primary bile acid biosynthesis_Homo sapiens_hsa001200.51081114
88Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.50347828
89beta-Alanine metabolism_Homo sapiens_hsa004100.50113085
90Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.48292389
91Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.47599399
92Inositol phosphate metabolism_Homo sapiens_hsa005620.46033786
93SNARE interactions in vesicular transport_Homo sapiens_hsa041300.44397835
94Longevity regulating pathway - mammal_Homo sapiens_hsa042110.43221589
95Caffeine metabolism_Homo sapiens_hsa002320.43207486
96Type I diabetes mellitus_Homo sapiens_hsa049400.43127699
97Non-small cell lung cancer_Homo sapiens_hsa052230.42586928
98Colorectal cancer_Homo sapiens_hsa052100.42399158
99Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.42340851
100Prolactin signaling pathway_Homo sapiens_hsa049170.41481870
101Chemokine signaling pathway_Homo sapiens_hsa040620.40962132
102Wnt signaling pathway_Homo sapiens_hsa043100.39169093
103Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.38521417
104Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.37293533
105Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.36909338
106Fatty acid biosynthesis_Homo sapiens_hsa000610.36861159
107Arginine and proline metabolism_Homo sapiens_hsa003300.35624575
108Ovarian steroidogenesis_Homo sapiens_hsa049130.35586271
109Central carbon metabolism in cancer_Homo sapiens_hsa052300.32907097
110Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.28372806
111Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.28372479
112Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.28256613
113Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.28195801
114Alzheimers disease_Homo sapiens_hsa050100.27954247
115Glycerophospholipid metabolism_Homo sapiens_hsa005640.27137244
116AMPK signaling pathway_Homo sapiens_hsa041520.26004328
117Linoleic acid metabolism_Homo sapiens_hsa005910.25900305
118Mineral absorption_Homo sapiens_hsa049780.25195581
119Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.25010621
120Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.23781607

Most similar genes based on co-expression Upload to Enrichr

Tissue Expression Export image »

Cell Line Expression Export image »